Scientists Discover Shared Genes in COPD and IPF, Pointing to Potential Drug Development

Scientists Discover Shared Genes in COPD and IPF, Pointing to Potential Drug Development

Despite sharing some risk factors, chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF) are usually studied in isolation, and the presence of possible shared molecular mechanisms has been unknown.

Now, in a new study published in the American Journal of Respiratory and Critical Care Medicine, a team of researchers at Yale identified a common genetic network for the two chronic lung diseases that could inform both future research and drug development. The study is titled “Integrated Genomics Reveals Convergent Transcriptomic Networks Underlying COPD and IPF.

Chronic lung diseases affect a significant portion of the population and account for more than 100,000 deaths a year. While most of these deaths can be attributed to COPD, the major smoking-induced lung disease, more than 15,000 deaths a year can be attributed to IPF, a serious, nearly always fatal fibrotic lung disease also associated with smoking.

The team of researchers acquired lung tissue samples from patients with COPD and IPF, as well as other lung conditions, via the Lung Tissue Resource Consortium, a large biorepository of the National Heart, Lung and Blood Institute.

Researchers used RNA sequencing and systems biology techniques to investigate alterations in gene expression in patients’ tissue samples in comparison with tissues from lungs with no disease.

Interestingly, the team found that both diseases share similar gene changes.

“We were able to identify a relatively large number of genes that behaved similarly in both diseases,” said author Dr. Naftali Kaminski, chief of the Pulmonary, Critical Care, and Sleep Medicine section at Yale, in a news release. “This finding may suggest that there are potential core mechanisms shared by IPF and emphysema [a type of COPD], allowing for the development of interventions to target both diseases.”

The shared network of genes that the team discovered is called the p53/hypoxia pathway. “This may suggest that the network underlies the response to the environmental causes of IPF and COPD,” said Dr. Avrum Spiro, co-corresponding author and a key collaborator on the project. “It may also be relevant to lung cancer, a condition that is more common in patients with IPF or COPD.”

The study, the first large-scale transcriptomic research comparing lung diseases, was conducted as part of a collaboration between the Mayo Clinic, Yale, Harvard, Boston, University of Michigan, University of Colorado-Denver, and the University of Pittsburgh.

“The study of COPD, IPF, or even lung cancer has been siloed for too long,” Kaminski said. “We may learn a lot by comparing and contrasting these devastating conditions.”

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